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FAM13B  -  family with sequence similarity 13, member B

Homo sapiens

Synonyms: ARHGAP49, C5orf5, FAM13B1, GAP-like protein N61, KHCHP, ...
 
 
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Disease relevance of C5orf5

  • To examine this, the current study used Fab phage methodology to couple an array of light chains, obtained from cDNA libraries isolated from immunized mice, to single Fd obtained from N61, N92, and 425/2B hybridomas [1].
  • N61 codon substitutions of A to G resulting in a Gly to Arg substitution were detected in 2 papillary carcinomas; the same mutation was also found in one follicular adenoma [2].
 

High impact information on C5orf5

  • Median percentage of RAS mutant allele assayed by quantitative RFLP analysis was 28% (N12), 19% (N13), 25% (N61), and 21% (K12) [3].
  • Since an asparagine is conserved at the equivalent position to N61 of FMO3 in mammalian, yeast and Caenorhabditis elegans FMOs, the characterization of the naturally occurring N61S (A to G) mutation may have identified this asparagine as playing a critical role specifically in FMO-catalysed N-oxidation [4].
  • To assess the roles of the N-linked glycan and the above two sets of amino acids in the function of DAF, we mutated N61 to Q, KKK125-127 to TTT and L147F148 to SS [5].
  • An intrathyroidal papillary cancer had an N61 ras mutation and a ret/PTC gene rearrangement [6].
  • Furthermore, RFLP patterns of (cr)-N61 and FR-mutant probed with coxIII and orf25 were identical with each other, but different from those of the other alloplasmic lines, indicating that the nuclei of N61 and FR-mutant harbor some gene(s) that induces structural alterations of the mitochondrial genome in the coxIII and orf25 regions [7].
 

Biological context of C5orf5

  • Here we have determined the order of genetic events in a patient with acute myeloid leukaemia characterized by trisomy 8 and a point mutation of N-ras at codon 12 (N12-cys) and codon 61 (N61-his) [8].

References

  1. Only selected light chains combine with a given heavy chain to confer specificity for a model glycopeptide antigen. Czerwinski, M., Siemaszko, D., Siegel, D.L., Spitalnik, S.L. J. Immunol. (1998) [Pubmed]
  2. Prevalence of activating ras mutations in morphologically characterized thyroid nodules. Ezzat, S., Zheng, L., Kolenda, J., Safarian, A., Freeman, J.L., Asa, S.L. Thyroid (1996) [Pubmed]
  3. RAS mutation in acute myeloid leukemia is associated with distinct cytogenetic subgroups but does not influence outcome in patients younger than 60 years. Bowen, D.T., Frew, M.E., Hills, R., Gale, R.E., Wheatley, K., Groves, M.J., Langabeer, S.E., Kottaridis, P.D., Moorman, A.V., Burnett, A.K., Linch, D.C. Blood (2005) [Pubmed]
  4. Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome. Dolphin, C.T., Janmohamed, A., Smith, R.L., Shephard, E.A., Phillips, I.R. Pharmacogenetics (2000) [Pubmed]
  5. Structure/function studies of human decay-accelerating factor. Brodbeck, W.G., Kuttner-Kondo, L., Mold, C., Medof, M.E. Immunology (2000) [Pubmed]
  6. Oncogene profile of papillary thyroid carcinoma. Sugg, S.L., Ezzat, S., Zheng, L., Freeman, J.L., Rosen, I.B., Asa, S.L. Surgery (1999) [Pubmed]
  7. Alloplasmic wheats with Aegilops crassa cytoplasm which express photoperiod-sensitive homeotic transformations of anthers, show alterations in mitochondrial DNA structure and transcription. Ogihara, Y., Futami, K., Tsuji, K., Murai, K. Mol. Gen. Genet. (1997) [Pubmed]
  8. Sequential acquisition of trisomy 8 and N-ras mutation in acute myeloid leukaemia demonstrated by analysis of isolated leukaemic colonies. Price, C.M., Marshall, C.J., Bashey, A. Br. J. Haematol. (1994) [Pubmed]
 
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